Mutagenetix > Incidental Mutation

Incidental Mutation 'R5070:Pmfbp1'

388654

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

042660-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110256787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 497 (Q497L)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034162]

AlphaFold

Q9WVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034162
AA Change: Q497L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: Q497L

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
internal_repeat_1	38	84	9.43e-6	PROSPERO
coiled coil region	89	121	N/A	INTRINSIC
internal_repeat_1	138	178	9.43e-6	PROSPERO
coiled coil region	197	223	N/A	INTRINSIC
coiled coil region	334	377	N/A	INTRINSIC
low complexity region	392	403	N/A	INTRINSIC
coiled coil region	411	732	N/A	INTRINSIC
coiled coil region	758	879	N/A	INTRINSIC
coiled coil region	931	968	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212003

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
Acacb	T	C	5: 114,384,089 (GRCm39)	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
AI987944	C	T	7: 41,024,748 (GRCm39)	G77D	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Bend3	A	T	10: 43,369,681 (GRCm39)	E11D	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Cds2	T	A	2: 132,144,008 (GRCm39)	Y4*	probably null	Het
Celsr1	G	T	15: 85,823,335 (GRCm39)	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,933,054 (GRCm39)	V133E	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Comp	G	A	8: 70,829,145 (GRCm39)	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,688,852 (GRCm39)	F11I	probably benign	Het
Ctse	A	G	1: 131,595,917 (GRCm39)	D203G	probably damaging	Het
Cyp1b1	T	A	17: 80,018,040 (GRCm39)	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,151,914 (GRCm39)	S210T	probably benign	Het
Dnah1	G	A	14: 31,004,375 (GRCm39)	P2385S	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Eif4g3	A	G	4: 137,873,610 (GRCm39)	T682A	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fam136b-ps	C	T	15: 31,276,862 (GRCm39)		probably benign	Het
Fbxl7	T	A	15: 26,789,640 (GRCm39)	H29L	probably benign	Het
Fbxw22	A	G	9: 109,214,183 (GRCm39)	V211A	probably benign	Het
Frk	A	T	10: 34,360,280 (GRCm39)	K94*	probably null	Het
G0s2	T	A	1: 192,954,870 (GRCm39)	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,030,727 (GRCm39)		probably null	Het
Gga1	A	G	15: 78,776,217 (GRCm39)	D420G	possibly damaging	Het
Gldc	T	C	19: 30,095,998 (GRCm39)	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,424,181 (GRCm39)	T90A	probably benign	Het
Gucy2g	C	A	19: 55,218,219 (GRCm39)	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,431,509 (GRCm39)	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,547,377 (GRCm39)	W55R	probably damaging	Het
Igsf10	T	A	3: 59,235,714 (GRCm39)	H1489L	probably benign	Het
Il17re	T	C	6: 113,435,971 (GRCm39)	L39P	probably damaging	Het
Irag1	A	G	7: 110,524,519 (GRCm39)	S208P	probably benign	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,779,730 (GRCm39)	H260R	possibly damaging	Het
Kctd19	T	C	8: 106,118,631 (GRCm39)	Y287C	probably damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Lama2	A	G	10: 27,226,247 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,794,715 (GRCm39)	D26V	probably damaging	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Mei1	T	A	15: 81,961,804 (GRCm39)	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,373,468 (GRCm39)	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,443,694 (GRCm39)	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mier2	T	C	10: 79,385,411 (GRCm39)	D139G	probably benign	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Myh14	A	G	7: 44,265,672 (GRCm39)	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,909,212 (GRCm39)	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,083,456 (GRCm39)	L675P	probably damaging	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nedd9	C	A	13: 41,470,074 (GRCm39)	V360L	probably benign	Het
Oit3	C	T	10: 59,259,849 (GRCm39)	R518H	probably damaging	Het
Or10ag57	T	G	2: 87,218,507 (GRCm39)	C153G	probably damaging	Het
Or11g2	A	G	14: 50,855,931 (GRCm39)	N84S	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or1j14	T	A	2: 36,417,778 (GRCm39)	M118K	probably damaging	Het
Or2aj6	A	G	16: 19,443,742 (GRCm39)	I36T	possibly damaging	Het
Or2j6	A	G	7: 139,980,482 (GRCm39)	V159A	probably benign	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pask	A	T	1: 93,258,596 (GRCm39)	C251S	probably damaging	Het
Pdzk1	A	T	3: 96,757,637 (GRCm39)	D31V	probably benign	Het
Pofut1	T	C	2: 153,103,486 (GRCm39)		probably benign	Het
Polr2h	A	G	16: 20,540,716 (GRCm39)	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,056,578 (GRCm39)	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Prkd1	A	T	12: 50,441,405 (GRCm39)	L327*	probably null	Het
Prrt4	T	C	6: 29,177,511 (GRCm39)	E86G	probably benign	Het
Psen2	T	C	1: 180,056,422 (GRCm39)	I393V	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Qser1	C	T	2: 104,617,627 (GRCm39)	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,967,855 (GRCm39)	A114D	probably damaging	Het
Rag1	A	T	2: 101,472,656 (GRCm39)	W829R	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rgs8	C	T	1: 153,541,650 (GRCm39)	T3I	probably damaging	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,213,227 (GRCm39)	D6E	probably damaging	Het
Shisal1	G	T	15: 84,304,364 (GRCm39)	A14E	possibly damaging	Het
Skint5	T	A	4: 113,652,735 (GRCm39)	I630F	unknown	Het
Skint7	T	C	4: 111,841,331 (GRCm39)	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Sorl1	T	C	9: 41,943,114 (GRCm39)	K921E	possibly damaging	Het
Stub1	A	G	17: 26,051,112 (GRCm39)	L90P	probably damaging	Het
Sycp1	A	T	3: 102,827,881 (GRCm39)	S289T	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tead3	T	C	17: 28,560,451 (GRCm39)	K51R	probably benign	Het
Tmed11	T	A	5: 108,943,089 (GRCm39)	I30L	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tmem191	A	G	16: 17,095,559 (GRCm39)	Q206R	probably null	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uqcrq	A	G	11: 53,320,954 (GRCm39)		probably null	Het
Vmn1r215	T	A	13: 23,260,666 (GRCm39)	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,368,325 (GRCm39)	V271A	probably benign	Het
Vps13a	G	A	19: 16,631,848 (GRCm39)	R2596C	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdr90	T	C	17: 26,065,307 (GRCm39)	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,290,891 (GRCm39)	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp30	A	G	7: 29,485,691 (GRCm39)		probably benign	Het
Zfp428	T	A	7: 24,214,550 (GRCm39)	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,302,135 (GRCm39)	N1820K	probably damaging	Het
Zw10	C	A	9: 48,988,759 (GRCm39)	S675*	probably null	Het

Other mutations in Pmfbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Pmfbp1	APN	8	110,264,625 (GRCm39)	missense	possibly damaging	0.75
IGL01505:Pmfbp1	APN	8	110,240,543 (GRCm39)	missense	probably damaging	1.00
IGL01609:Pmfbp1	APN	8	110,254,348 (GRCm39)	missense	probably benign	0.12
IGL02066:Pmfbp1	APN	8	110,268,365 (GRCm39)	missense	possibly damaging	0.76
IGL02926:Pmfbp1	APN	8	110,246,881 (GRCm39)	missense	probably damaging	1.00
IGL03374:Pmfbp1	APN	8	110,269,046 (GRCm39)	utr 3 prime	probably benign
R0022:Pmfbp1	UTSW	8	110,252,039 (GRCm39)	missense	probably damaging	1.00
R0022:Pmfbp1	UTSW	8	110,252,039 (GRCm39)	missense	probably damaging	1.00
R0046:Pmfbp1	UTSW	8	110,262,617 (GRCm39)	splice site	probably benign
R0068:Pmfbp1	UTSW	8	110,269,011 (GRCm39)	splice site	probably benign
R0211:Pmfbp1	UTSW	8	110,268,372 (GRCm39)	missense	probably benign	0.03
R0244:Pmfbp1	UTSW	8	110,268,305 (GRCm39)	missense	probably damaging	1.00
R0468:Pmfbp1	UTSW	8	110,240,600 (GRCm39)	splice site	probably null
R0479:Pmfbp1	UTSW	8	110,257,105 (GRCm39)	splice site	probably benign
R1124:Pmfbp1	UTSW	8	110,257,115 (GRCm39)	critical splice acceptor site	probably null
R1332:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	1.00
R1336:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	1.00
R1621:Pmfbp1	UTSW	8	110,226,170 (GRCm39)	missense	probably benign	0.04
R1961:Pmfbp1	UTSW	8	110,256,776 (GRCm39)	splice site	probably benign
R2069:Pmfbp1	UTSW	8	110,258,735 (GRCm39)	missense	possibly damaging	0.68
R2125:Pmfbp1	UTSW	8	110,246,905 (GRCm39)	missense	probably damaging	1.00
R2889:Pmfbp1	UTSW	8	110,252,063 (GRCm39)	missense	probably damaging	0.99
R3034:Pmfbp1	UTSW	8	110,247,553 (GRCm39)	critical splice acceptor site	probably null
R3956:Pmfbp1	UTSW	8	110,256,801 (GRCm39)	missense	probably benign	0.25
R4085:Pmfbp1	UTSW	8	110,221,579 (GRCm39)	missense	possibly damaging	0.92
R4191:Pmfbp1	UTSW	8	110,254,260 (GRCm39)	missense	probably benign	0.00
R4410:Pmfbp1	UTSW	8	110,258,695 (GRCm39)	missense	probably benign	0.07
R4418:Pmfbp1	UTSW	8	110,257,265 (GRCm39)	missense	probably benign	0.36
R4888:Pmfbp1	UTSW	8	110,258,792 (GRCm39)	missense	probably damaging	1.00
R4937:Pmfbp1	UTSW	8	110,262,498 (GRCm39)	missense	probably benign
R5184:Pmfbp1	UTSW	8	110,254,399 (GRCm39)	missense	possibly damaging	0.92
R5552:Pmfbp1	UTSW	8	110,258,383 (GRCm39)	missense	probably damaging	0.98
R5609:Pmfbp1	UTSW	8	110,251,739 (GRCm39)	missense	probably damaging	1.00
R5760:Pmfbp1	UTSW	8	110,247,655 (GRCm39)	missense	probably damaging	0.99
R5818:Pmfbp1	UTSW	8	110,265,311 (GRCm39)	splice site	probably null
R6378:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	0.99
R6496:Pmfbp1	UTSW	8	110,258,789 (GRCm39)	missense	probably null	0.04
R6550:Pmfbp1	UTSW	8	110,246,839 (GRCm39)	missense	possibly damaging	0.90
R6565:Pmfbp1	UTSW	8	110,252,060 (GRCm39)	nonsense	probably null
R6624:Pmfbp1	UTSW	8	110,256,822 (GRCm39)	missense	possibly damaging	0.92
R6684:Pmfbp1	UTSW	8	110,262,462 (GRCm39)	missense	probably benign	0.10
R6823:Pmfbp1	UTSW	8	110,256,939 (GRCm39)	missense	possibly damaging	0.92
R6833:Pmfbp1	UTSW	8	110,265,307 (GRCm39)	critical splice donor site	probably null
R6940:Pmfbp1	UTSW	8	110,251,823 (GRCm39)	missense	probably damaging	0.98
R7000:Pmfbp1	UTSW	8	110,257,221 (GRCm39)	missense	possibly damaging	0.92
R7411:Pmfbp1	UTSW	8	110,240,503 (GRCm39)	missense	probably damaging	1.00
R7563:Pmfbp1	UTSW	8	110,252,006 (GRCm39)	missense	possibly damaging	0.83
R7782:Pmfbp1	UTSW	8	110,254,412 (GRCm39)	missense	probably damaging	0.96
R8115:Pmfbp1	UTSW	8	110,263,669 (GRCm39)	missense	probably damaging	1.00
R8712:Pmfbp1	UTSW	8	110,265,309 (GRCm39)	splice site	probably benign
R8954:Pmfbp1	UTSW	8	110,258,433 (GRCm39)	missense	probably benign	0.00
R9054:Pmfbp1	UTSW	8	110,247,661 (GRCm39)	missense	possibly damaging	0.84
R9067:Pmfbp1	UTSW	8	110,263,244 (GRCm39)	missense	possibly damaging	0.87
R9211:Pmfbp1	UTSW	8	110,262,445 (GRCm39)	missense	probably benign	0.04
R9237:Pmfbp1	UTSW	8	110,246,932 (GRCm39)	missense	probably damaging	1.00
R9275:Pmfbp1	UTSW	8	110,262,471 (GRCm39)	missense	probably benign	0.03
R9293:Pmfbp1	UTSW	8	110,263,205 (GRCm39)	missense	probably benign	0.38
R9302:Pmfbp1	UTSW	8	110,268,474 (GRCm39)	missense	probably damaging	1.00
R9539:Pmfbp1	UTSW	8	110,240,537 (GRCm39)	missense	probably damaging	1.00
X0065:Pmfbp1	UTSW	8	110,262,499 (GRCm39)	missense	probably benign	0.25
Z1088:Pmfbp1	UTSW	8	110,240,576 (GRCm39)	missense	probably damaging	1.00
Z1176:Pmfbp1	UTSW	8	110,258,383 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGAAGGCAGACAATTTAGCAG -3'
(R):5'- AGGGCCTGCCATCTTACTAC -3'

Sequencing Primer
(F):5'- CAATTTAGCAGAGCTCCTGATGGC -3'
(R):5'- CCAACCTGTGGGGCTGG -3'

Posted On

2016-06-06